Incidental Mutation 'R2159:Mybpc3'
ID 235028
Institutional Source Beutler Lab
Gene Symbol Mybpc3
Ensembl Gene ENSMUSG00000002100
Gene Name myosin binding protein C, cardiac
Synonyms cardiac C-protein
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 90948489-90966861 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90955715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 583 (K583M)
Ref Sequence ENSEMBL: ENSMUSP00000127070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111430] [ENSMUST00000137942] [ENSMUST00000169776]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000111430
AA Change: K582M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
AA Change: K582M

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 373 453 1.25e-4 SMART
IG 463 544 2.48e-8 SMART
IG 554 640 3.16e-1 SMART
IG 659 772 3.91e-6 SMART
FN3 775 858 2.5e-11 SMART
FN3 873 956 7.06e-11 SMART
IG 983 1066 3.3e-4 SMART
FN3 1069 1151 4.38e-7 SMART
IGc2 1196 1263 6.21e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137942
AA Change: K418M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
AA Change: K418M

DomainStartEndE-ValueType
IG 3 99 2.81e-7 SMART
low complexity region 135 152 N/A INTRINSIC
IG 209 289 1.25e-4 SMART
IG 299 380 2.48e-8 SMART
IG 390 476 3.16e-1 SMART
IG 495 608 3.91e-6 SMART
FN3 611 694 2.5e-11 SMART
FN3 709 792 7.06e-11 SMART
IG 819 902 3.3e-4 SMART
FN3 905 987 4.38e-7 SMART
IGc2 1032 1099 6.21e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169776
AA Change: K583M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
AA Change: K583M

DomainStartEndE-ValueType
IG 24 103 4.86e-2 SMART
low complexity region 131 143 N/A INTRINSIC
IG 167 263 2.81e-7 SMART
IG 374 454 1.25e-4 SMART
IG 464 545 2.48e-8 SMART
IG 555 641 3.16e-1 SMART
IG 660 773 3.91e-6 SMART
FN3 776 859 2.5e-11 SMART
FN3 874 957 7.06e-11 SMART
IG 984 1067 3.3e-4 SMART
FN3 1070 1152 4.38e-7 SMART
IGc2 1197 1264 6.21e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Casp3 A G 8: 47,087,323 (GRCm39) D90G probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cdk2ap1 G A 5: 124,486,667 (GRCm39) R65* probably null Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gp2 T C 7: 119,051,507 (GRCm39) D236G probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Phf10 C T 17: 15,172,926 (GRCm39) E304K probably damaging Het
Prmt5 T C 14: 54,752,795 (GRCm39) T139A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Mybpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mybpc3 APN 2 90,950,374 (GRCm39) missense probably benign
IGL00985:Mybpc3 APN 2 90,965,704 (GRCm39) missense probably benign 0.16
IGL01926:Mybpc3 APN 2 90,965,752 (GRCm39) missense possibly damaging 0.61
IGL02135:Mybpc3 APN 2 90,955,171 (GRCm39) missense possibly damaging 0.58
IGL02187:Mybpc3 APN 2 90,965,797 (GRCm39) missense probably benign
IGL02219:Mybpc3 APN 2 90,951,368 (GRCm39) critical splice acceptor site probably null
IGL02752:Mybpc3 APN 2 90,962,982 (GRCm39) critical splice acceptor site probably null
IGL03002:Mybpc3 APN 2 90,954,234 (GRCm39) missense probably damaging 1.00
IGL03118:Mybpc3 APN 2 90,954,848 (GRCm39) missense probably damaging 1.00
IGL03238:Mybpc3 APN 2 90,962,004 (GRCm39) missense probably damaging 1.00
amanitin UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
fungus UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R0010:Mybpc3 UTSW 2 90,965,178 (GRCm39) nonsense probably null
R0114:Mybpc3 UTSW 2 90,954,839 (GRCm39) missense probably damaging 1.00
R0139:Mybpc3 UTSW 2 90,950,682 (GRCm39) splice site probably benign
R0282:Mybpc3 UTSW 2 90,954,369 (GRCm39) splice site probably benign
R0673:Mybpc3 UTSW 2 90,950,772 (GRCm39) missense probably damaging 1.00
R1388:Mybpc3 UTSW 2 90,953,219 (GRCm39) missense probably benign 0.43
R2424:Mybpc3 UTSW 2 90,966,138 (GRCm39) missense probably benign 0.20
R3983:Mybpc3 UTSW 2 90,965,714 (GRCm39) missense probably benign
R4322:Mybpc3 UTSW 2 90,954,306 (GRCm39) missense possibly damaging 0.87
R4909:Mybpc3 UTSW 2 90,965,157 (GRCm39) missense probably benign
R4913:Mybpc3 UTSW 2 90,956,609 (GRCm39) missense possibly damaging 0.46
R4965:Mybpc3 UTSW 2 90,949,592 (GRCm39) missense possibly damaging 0.50
R5248:Mybpc3 UTSW 2 90,955,573 (GRCm39) splice site probably null
R5311:Mybpc3 UTSW 2 90,959,023 (GRCm39) nonsense probably null
R5332:Mybpc3 UTSW 2 90,953,283 (GRCm39) missense probably damaging 1.00
R5635:Mybpc3 UTSW 2 90,965,174 (GRCm39) missense probably benign 0.00
R5647:Mybpc3 UTSW 2 90,952,067 (GRCm39) splice site probably null
R5698:Mybpc3 UTSW 2 90,955,194 (GRCm39) missense possibly damaging 0.85
R5832:Mybpc3 UTSW 2 90,949,520 (GRCm39) splice site probably null
R5895:Mybpc3 UTSW 2 90,955,010 (GRCm39) missense probably damaging 0.99
R6833:Mybpc3 UTSW 2 90,955,773 (GRCm39) splice site probably null
R7061:Mybpc3 UTSW 2 90,955,749 (GRCm39) missense possibly damaging 0.93
R7144:Mybpc3 UTSW 2 90,964,949 (GRCm39) missense probably benign 0.03
R7169:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense possibly damaging 0.85
R7472:Mybpc3 UTSW 2 90,962,001 (GRCm39) missense probably damaging 1.00
R7538:Mybpc3 UTSW 2 90,950,832 (GRCm39) missense probably damaging 1.00
R7677:Mybpc3 UTSW 2 90,959,376 (GRCm39) missense probably benign 0.04
R7955:Mybpc3 UTSW 2 90,956,401 (GRCm39) splice site probably null
R8290:Mybpc3 UTSW 2 90,951,473 (GRCm39) missense probably benign 0.00
R8486:Mybpc3 UTSW 2 90,959,117 (GRCm39) missense probably damaging 1.00
R8821:Mybpc3 UTSW 2 90,948,524 (GRCm39) missense probably null 0.98
R8885:Mybpc3 UTSW 2 90,954,237 (GRCm39) missense probably benign
R8938:Mybpc3 UTSW 2 90,954,294 (GRCm39) missense probably damaging 1.00
R9420:Mybpc3 UTSW 2 90,965,478 (GRCm39) nonsense probably null
R9581:Mybpc3 UTSW 2 90,949,616 (GRCm39) missense probably benign
Z1088:Mybpc3 UTSW 2 90,965,704 (GRCm39) missense probably benign 0.16
Z1176:Mybpc3 UTSW 2 90,950,748 (GRCm39) missense possibly damaging 0.85
Z1177:Mybpc3 UTSW 2 90,954,309 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGTCCCGTAACTGCACATACC -3'
(R):5'- GTGACTCCCATGTGATTCCC -3'

Sequencing Primer
(F):5'- AGAGGCCTGCATACCACTG -3'
(R):5'- ATGTGATTCCCTCCCATGTCTGAC -3'
Posted On 2014-10-01